Variant (rsID / SNP)

rs35602605

rs35602605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EIF2AK4. Location: chromosome 15, position 40,308,859. Clinical significance in the table: Benign.

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Reference-table entries

EIF2AK4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:40308859
Cytoband: 15q15.1
HGVS: NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys)
Allele change: Missense_G1306C

Associated conditions / phenotypes

Familial pulmonary capillary hemangiomatosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.